Incidental Mutation 'R4064:Pus10'
ID 316022
Institutional Source Beutler Lab
Gene Symbol Pus10
Ensembl Gene ENSMUSG00000020280
Gene Name pseudouridylate synthase 10
Synonyms Ccdc139, 4933435A13Rik, 2810013G11Rik
MMRRC Submission 041620-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4064 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 23615674-23682876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23678983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 485 (K485R)
Ref Sequence ENSEMBL: ENSMUSP00000105151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020520] [ENSMUST00000058163] [ENSMUST00000109525]
AlphaFold Q9D3U0
Predicted Effect probably damaging
Transcript: ENSMUST00000020520
AA Change: K485R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280
AA Change: K485R

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000058163
AA Change: K485R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280
AA Change: K485R

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000109525
AA Change: K485R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280
AA Change: K485R

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142287
Meta Mutation Damage Score 0.7690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T G 19: 43,793,432 (GRCm39) Y361* probably null Het
Afmid A G 11: 117,727,354 (GRCm39) T293A probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Axl C A 7: 25,463,445 (GRCm39) V602L probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etfdh T C 3: 79,513,098 (GRCm39) E435G possibly damaging Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fosb G T 7: 19,039,117 (GRCm39) C186* probably null Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Mphosph9 A T 5: 124,428,980 (GRCm39) F683I probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Nhlh2 A G 3: 101,920,052 (GRCm39) D28G probably benign Het
Or1e16 A T 11: 73,286,348 (GRCm39) S167T probably benign Het
Or5w17 A G 2: 87,584,133 (GRCm39) F68S probably damaging Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Parp4 A G 14: 56,861,597 (GRCm39) S977G probably benign Het
Psmb7 T C 2: 38,530,188 (GRCm39) T98A probably damaging Het
Rab11fip3 T C 17: 26,243,368 (GRCm39) D588G probably damaging Het
Rgl2 T A 17: 34,156,082 (GRCm39) D723E possibly damaging Het
Rp1 A T 1: 4,415,623 (GRCm39) S1830T probably benign Het
Rreb1 T C 13: 38,114,293 (GRCm39) S551P probably benign Het
Serpinb7 A T 1: 107,373,766 (GRCm39) E127D probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc26a9 T C 1: 131,690,925 (GRCm39) Y568H probably benign Het
Tars3 G A 7: 65,302,018 (GRCm39) A181T possibly damaging Het
Tbc1d2b T A 9: 90,100,975 (GRCm39) K672* probably null Het
Tmem59l T C 8: 70,938,369 (GRCm39) T168A probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Vmn1r9 T C 6: 57,048,306 (GRCm39) F127S probably damaging Het
Zfp282 G A 6: 47,857,028 (GRCm39) R87H probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zscan22 C T 7: 12,640,941 (GRCm39) T395I probably damaging Het
Other mutations in Pus10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Pus10 APN 11 23,657,548 (GRCm39) nonsense probably null
IGL02304:Pus10 APN 11 23,662,275 (GRCm39) missense probably damaging 1.00
IGL02466:Pus10 APN 11 23,675,574 (GRCm39) missense probably damaging 0.99
IGL02967:Pus10 APN 11 23,668,602 (GRCm39) missense probably damaging 1.00
IGL03233:Pus10 APN 11 23,662,241 (GRCm39) missense probably damaging 1.00
IGL03300:Pus10 APN 11 23,681,368 (GRCm39) utr 3 prime probably benign
PIT4486001:Pus10 UTSW 11 23,662,326 (GRCm39) critical splice donor site probably null
PIT4677001:Pus10 UTSW 11 23,670,171 (GRCm39) missense possibly damaging 0.88
R0166:Pus10 UTSW 11 23,617,358 (GRCm39) missense probably damaging 1.00
R0440:Pus10 UTSW 11 23,623,331 (GRCm39) unclassified probably benign
R0519:Pus10 UTSW 11 23,661,201 (GRCm39) missense probably benign 0.02
R1583:Pus10 UTSW 11 23,623,239 (GRCm39) missense probably damaging 0.96
R1714:Pus10 UTSW 11 23,675,542 (GRCm39) missense probably damaging 1.00
R1941:Pus10 UTSW 11 23,661,198 (GRCm39) missense possibly damaging 0.60
R3687:Pus10 UTSW 11 23,617,334 (GRCm39) missense probably benign
R3688:Pus10 UTSW 11 23,617,334 (GRCm39) missense probably benign
R3854:Pus10 UTSW 11 23,653,003 (GRCm39) critical splice donor site probably null
R4127:Pus10 UTSW 11 23,668,654 (GRCm39) critical splice donor site probably null
R4276:Pus10 UTSW 11 23,656,895 (GRCm39) missense probably damaging 1.00
R4655:Pus10 UTSW 11 23,622,707 (GRCm39) missense probably benign 0.02
R5302:Pus10 UTSW 11 23,617,416 (GRCm39) critical splice donor site probably null
R5580:Pus10 UTSW 11 23,622,556 (GRCm39) missense probably benign 0.16
R6196:Pus10 UTSW 11 23,622,638 (GRCm39) missense probably benign 0.15
R6549:Pus10 UTSW 11 23,679,075 (GRCm39) critical splice donor site probably null
R6722:Pus10 UTSW 11 23,652,975 (GRCm39) missense possibly damaging 0.93
R6724:Pus10 UTSW 11 23,679,037 (GRCm39) missense possibly damaging 0.78
R9140:Pus10 UTSW 11 23,622,625 (GRCm39) missense probably benign 0.00
R9351:Pus10 UTSW 11 23,617,311 (GRCm39) missense probably benign 0.00
R9390:Pus10 UTSW 11 23,656,937 (GRCm39) missense probably damaging 1.00
R9404:Pus10 UTSW 11 23,661,202 (GRCm39) missense possibly damaging 0.88
X0064:Pus10 UTSW 11 23,658,743 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TATGTTGGCATCCAGGCTGG -3'
(R):5'- CGCAAATGGGATCCTGGTTTG -3'

Sequencing Primer
(F):5'- ATCCAGGCTGGTGGGAAC -3'
(R):5'- ATAACTCTGGTTCTAGGGGACCC -3'
Posted On 2015-05-15